(Q36001134)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author name string

Zhenfei Yang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Dongmei Su

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Qian Li

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Fan Yang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Zicheng Ma

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Siquan Zhu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Xu Ma

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

publication date

15 May 2012

1 reference

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3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

page(s)

1283-1288

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

βA3/A1-Crystallin controls anoikis-mediated cell death in astrocytes by modulating PI3K/AKT/mTOR and ERK survival pathways through the PKD/Bit1-signaling axis

3 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

The genetic and molecular basis of congenital cataract

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

Genetics of crystallins: cataract and beyond.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

Crystallin gene mutations in Indian families with inherited pediatric cataract

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

Congenital cataracts and their molecular genetics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

The genetics of childhood cataract

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

Clinical and genetic heterogeneity in autosomal dominant cataract

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

The genetics of cataract: our vision becomes clearer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

The elusive role of the N-terminal extension of beta A3- and beta A1-crystallin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

Alpha-crystallin can function as a molecular chaperone

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365137

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract

2 October 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22665976

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-ray analysis of the eye lens protein gamma-II crystallin at 1.9 A resolution

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22665976

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22665976%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

22665976

1 reference